Table 2.
Phenotypic association analysis of two genes all mentioned in GLGC, CARDIoGRAMplusC4D, MGI, and GWAS catalog.
| Mutation set | Gene | cMAF | OR | p value | PDW P (Beta) | UA P (Beta) | TG P (Beta) | LDL‐C P (Beta) | ApoB P (Beta) | D‐dimer P (Beta) |
|---|---|---|---|---|---|---|---|---|---|---|
| Nonsynoymous | LDLR | 0.027 | 4.25 | 0.002 | 0.062 (2.16) | 0.01 (85.12)a | 0.62 (−5.29) | 0.013 (31.4)a | 0.035 (0.18)a | 0.156 (−0.1) |
| Broad | LDLR | 0.076 | 4.27 | 0.004 | 0.009 (3.21)a | 0.025 (80.24)a | 0.21 (−14.25) | 0.109 (22.04) | 0.069 (0.18) | 0.124 (−0.11) |
| PolyPhen | LDLR | 0.019 | 4.60 | 0.006 | 0.001 (4.24)a | 0.167 (54.06) | 0.346 (−11.45) | 0.356 (13.59) | 0.081 (0.18) | 0.121 (−0.12) |
| Broad | QTRT1 | 0.017 | 4.05 | 0.009 | 0.662 (−0.53) | 0.017 (83.15)a | 0.005 (32.19)a | 0.693 (5.7) | 0.5 (0.06) | 0.002 (0.23)a |
| PolyPhen | QTRT1 | 0.014 | 4.06 | 0.017 | 0.974 (−0.04) | 0.112 (61.15) | 0.02 (29.48)a | 0.742 (5.17) | 0.773 (0.03) | 0.406 (0.07) |
Note: OR and p value were calculated by Fisher's exact test. Beta (P) represents the coefficient and p value of effect of the mutation set in genes on the corresponding clinical phenotypic markers in linear regression.
Abbreviations: ApoB, apolipoprotein B; cMAF, collapsed minor allele frequency; LDL‐C, low‐density lipoprotein‐cholesterol; OR, odds ratio; PDW, platelet distribution width; TG, triglyceride; UA, uric acid.
a
Refers to significant results.